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Expanding the clinical spectrum associated with defects in CNTNAP2 and NRXN1.
Gregor A, Albrecht B, Bader I, Bijlsma EK, Ekici AB, Engels H, Hackmann K, Horn D, Hoyer J, Klapecki J, Kohlhase J, Maystadt I, Nagl S, Prott E, Tinschert S, Ullmann R, Wohlleber E, Woods G, Reis A, Rauch A, Zweier C. Gregor A, et al. Among authors: hackmann k. BMC Med Genet. 2011 Aug 9;12:106. doi: 10.1186/1471-2350-12-106. BMC Med Genet. 2011. PMID: 21827697 Free PMC article.
Distinct phenotype of PHF6 deletions in females.
Di Donato N, Isidor B, Lopez Cazaux S, Le Caignec C, Klink B, Kraus C, Schrock E, Hackmann K. Di Donato N, et al. Among authors: hackmann k. Eur J Med Genet. 2014 Feb;57(2-3):85-9. doi: 10.1016/j.ejmg.2013.12.003. Epub 2013 Dec 28. Eur J Med Genet. 2014. PMID: 24380767
Mutations in EXOSC2 are associated with a novel syndrome characterised by retinitis pigmentosa, progressive hearing loss, premature ageing, short stature, mild intellectual disability and distinctive gestalt.
Di Donato N, Neuhann T, Kahlert AK, Klink B, Hackmann K, Neuhann I, Novotna B, Schallner J, Krause C, Glass IA, Parnell SE, Benet-Pages A, Nissen AM, Berger W, Altmüller J, Thiele H, Weber BH, Schrock E, Dobyns WB, Bier A, Rump A. Di Donato N, et al. Among authors: hackmann k. J Med Genet. 2016 Jun;53(6):419-25. doi: 10.1136/jmedgenet-2015-103511. Epub 2016 Feb 3. J Med Genet. 2016. PMID: 26843489
Update on the ACTG1-associated Baraitser-Winter cerebrofrontofacial syndrome.
Di Donato N, Kuechler A, Vergano S, Heinritz W, Bodurtha J, Merchant SR, Breningstall G, Ladda R, Sell S, Altmüller J, Bögershausen N, Timms AE, Hackmann K, Schrock E, Collins S, Olds C, Rump A, Dobyns WB. Di Donato N, et al. Among authors: hackmann k. Am J Med Genet A. 2016 Oct;170(10):2644-51. doi: 10.1002/ajmg.a.37771. Epub 2016 May 30. Am J Med Genet A. 2016. PMID: 27240540
74 results